A5022734186- Metabolism and Genetic Disorders
- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- Mitochondrial Function and Pathology
- Hormonal Regulation and Hypertension
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Biochemical Acid Research Studies
- COVID-19 Clinical Research Studies
- Long-Term Effects of COVID-19
- Muscle metabolism and nutrition
- Glycosylation and Glycoproteins Research
- SARS-CoV-2 and COVID-19 Research
- Folate and B Vitamins Research
- Erythrocyte Function and Pathophysiology
- Pancreatic function and diabetes
- Alcoholism and Thiamine Deficiency
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Blood groups and transfusion
- Peroxisome Proliferator-Activated Receptors
- SARS-CoV-2 detection and testing
- Ion Transport and Channel Regulation
- Diet, Metabolism, and Disease
Hôpital Foch
2019-2023
Assistance Publique – Hôpitaux de Paris
2008-2020
Institut des Maladies Génétiques Imagine
2013-2020
Université Paris Cité
2013-2020
Hôpital Necker-Enfants Malades
2013-2019
Délégation Paris 5
2014-2018
Sorbonne Paris Cité
2015-2018
Inserm
2014-2017
Hôpital Bichat-Claude-Bernard
2008-2017
Abstract Comprehensive genetic analyses have identified germline SDHB and FH gene mutations as predominant causes of metastatic paraganglioma pheochromocytoma. However, some suspicious cases remain unexplained. In this study, we performed whole-exome sequencing a exhibiting an SDHx-like molecular profile in the absence SDHx or mutation SLC25A11 gene, which encodes mitochondrial 2-oxoglutarate/malate carrier. Germline were six other patients, five whom had disease. These associated with loss...
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding cationic amino-acids transporter subunit y+LAT1. The characterised by protein-rich food with secondary urea cycle disorder, but symptoms are heterogeneous ranging infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI both children and...
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited involvement also occurs in patients an autosomal recessive neurocutaneous due to ALDH18A1 mutations. encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), enzyme that catalyses first and common step of proline ornithine biosynthesis from glutamate. Through exome sequencing candidate gene screening, we report two...
Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved the de novo pathway recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no mutation was found so far specific process to apoenzymes pyruvate dehydrogenase (PDHc), α-ketoglutarate (α-KGDHc) branched chain α-keto (BCKDHc) complexes.Exome capture performed boy who developed Leigh disease following gastroenteritis had combined PDH α-KGDH deficiency with...
The principal aim of this study was to investigate the long-term outcomes a large cohort patients with ornithine transcarbamylase deficiency (OTCD) who were followed up at single medical center. We analyzed clinical, biochemical and genetic parameters 90 (84 families, 48 males 42 females) OTCD between 1971 2011. Twenty-seven (22 boys, 5 girls) had neonatal presentation; 52 an "intermediate" late-onset form disease (21 31 that revealed 1 month 16 years; 11 (5 6 presented in adulthood (16 55...
Abstract Background Classical organic acidurias including methylmalonic aciduria (MMA), propionic (PA) and isovaleric (IVA) are severe inborn errors of the catabolism branched-chain amino acids odd-numbered chain fatty acids, presenting with complications. Methods This study investigated long-term outcome 80 patients classical (38 MMA, 24 PA 18 IVA) by integrating clinical, radiological, biochemical genetic data. Results Patients were followed-up for a mean 14 years [age 3.3-46.3 years]....
Abstract Cancer cells display alterations in many cellular processes. One core hallmark of cancer is the Warburg effect which a glycolytic reprogramming that allows to survive and proliferate. Although contributions environmental contaminants development are widely accepted, underlying mechanisms have be clarified. Benzo[a]pyrene (B[a]P), prototype polycyclic aromatic hydrocarbons, exhibits genotoxic carcinogenic effects it human carcinogen according International Agency for Research on...
Abstract Introduction Coronavirus disease 2019 (COVID‐19) is characterized by a high contagiousness requiring isolation measures. At this time, diagnosis based on the positivity of specific RT‐PCR and/or chest computed tomography scan, which are time‐consuming and may delay diagnosis. Complete blood count (CBC) can potentially contribute to COVID‐19. We studied whether analysis cellular population data (CPD), provided as part CBC‐Diff DxH 800 analyzers (Beckman Coulter), help identify...
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified deleterious homozygous mutation in the ALDOA gene 3 siblings episodic rhabdomyolysis without anemia. Myoglobinuria was always triggered by febrile illnesses. show that underlying mechanism involves an exacerbation aldolase at high temperatures affected myoblasts but not erythrocytes. The rescued arginine supplementation vitro glycerol, betaine or benzylhydantoin,...
Based on the hypothesis of a brain energy deficit, we investigated safety and efficacy triheptanoin paroxysmal episodes in patients with alternating hemiplegia childhood due to ATP1A3 mutations. We conducted randomized, double-blind, placebo-controlled crossover study triheptanoin, at target dose corresponding 30% daily calorie intake, ten Each treatment period consisted 12-week fixed-dose phase, separated by 4-week washout period. The primary outcome was total number events. Secondary...
Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and energy production through replenishment tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency very rare metabolic disorder. We report on new patient affected by moderate form (the American type A). Diagnosis was nearly fortuitous, resulting from revision an initial diagnosis complex IV (C IV) defect. The...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to disorders that, nevertheless, are treatable by supplementation. In the last 10 years, we identified nine newborns biochemical features consistent MAD deficiency, only four whom survived past neonatal period. A likely...
Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 syndrome (GLUT1-DS). Because high-fat raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective ketogenic PDHD GLUT1-DS.We designed partial or total progressive substitution KD three GLUT1-DS two patients.In patients, observed clinical...